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    ENGASE endo-beta-N-acetylglucosaminidase [ Homo sapiens (human) ]

    Gene ID: 64772, updated on 27-Dec-2024

    Summary

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    Official Symbol
    ENGASEprovided by HGNC
    Official Full Name
    endo-beta-N-acetylglucosaminidaseprovided by HGNC
    Primary source
    HGNC:HGNC:24622
    See related
    Ensembl:ENSG00000167280 MIM:611898; AllianceGenome:HGNC:24622
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a cytosolic enzyme which catalyzes the hydrolysis of peptides and proteins with mannose modifications to produce free oligosaccharides. [provided by RefSeq, Feb 2012]
    Expression
    Ubiquitous expression in spleen (RPKM 23.3), duodenum (RPKM 12.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ENGASE in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (79074824..79088599)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79969760..79983540)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (77070906..77084681)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9078 Neighboring gene C1QTNF1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77040047-77040547 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:77042736-77043935 Neighboring gene calcium activated nucleotidase 1 Neighboring gene Sharpr-MPRA regulatory region 5335 Neighboring gene C1q and TNF related 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77094193-77094906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77099175-77100160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77112846-77113750 Neighboring gene RNA binding fox-1 homolog 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77157651-77158151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77173286-77173965 Neighboring gene uncharacterized LOC124904069 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77179359-77180239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9080 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77188893-77189550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77198565-77199383 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77207229-77207739 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77219238-77219738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77219739-77220239 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77223705-77224476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77362366-77362866 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:77369816-77369979 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:77397348-77397522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77400039-77400540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77403781-77404282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77404283-77404782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77409324-77409841 Neighboring gene Sharpr-MPRA regulatory region 4769 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77505025-77505682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77528471-77529242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77529243-77530014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77544533-77545032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77645285-77645791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77655553-77656543 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77657995-77658740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77665156-77666000 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77669291-77669891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77673338-77673922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77675499-77676019 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77680917-77681538 Neighboring gene microRNA 4739

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. N-acetyl-ß-D-glucosaminidase is predictive of mortality in chronic heart failure: a 10-year follow-up. Strack C, et al. Biomark Med, 2021 Sep. PMID 34397265
    2. The ENGases: versatile biocatalysts for the production of homogeneous N-linked glycopeptides and glycoproteins. Fairbanks AJ. Chem Soc Rev, 2017 Aug 14. PMID 28681051
    3. Screening-based discovery of drug-like O-GlcNAcase inhibitor scaffolds. Dorfmueller HC, et al. FEBS Lett, 2010 Feb 19. PMID 20026047, Free PMC Article
    4. Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease. Bi Y, et al. Bioorg Med Chem Lett, 2017 Jul 1. PMID 28512024, Free PMC Article
    5. The Amazing Transglycosylation Activity of Endo-β-N-acetylglucosaminidases. Wang LX. Trends Glycosci Glycotechnol, 2011. PMID 25309039, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. N-acetyl-ss-D-glucosaminidase is predictive of mortality in chronic heart failure: a 10-year follow-up.
      Title: N-acetyl-ß-D-glucosaminidase is predictive of mortality in chronic heart failure: a 10-year follow-up.
    2. Transcriptome-wide association study reveals two genes that influence mismatch negativity.
      Title: Transcriptome-wide association study reveals two genes that influence mismatch negativity.
    3. In patients with autosomal dominant polycystic kidney disease, urinary NAGase was correlated with urinary ET-1 which was inversely associated with eGFR and positively correlated with total kidney volume.
      Title: Relationship of urinary endothelin-1 with estimated glomerular filtration rate in autosomal dominant polycystic kidney disease: a pilot cross-sectional analysis.
    4. Serological N-acetyl-glucosaminidase, telomere length, and the UCP2-886G>A variant are independent risk factors for type 2 diabetes.
      Title: Telomere dysfunction-related serological markers are associated with type 2 diabetes.
    5. As the generation of the bulk of fOS is unaffected by co-down regulation of Ngly1p and Engase1p, alternative quantitatively important mechanisms must underlie the liberation of these fOS from either LLO or glycoproteins during protein N-glycosylation.
      Title: Identification of roles for peptide: N-glycanase and endo-beta-N-acetylglucosaminidase (Engase1p) during protein N-glycosylation in human HepG2 cells.
    6. O-GlcNAcase expression is increased in erythrocytes from both individuals with pre-diabetes and individuals with less well-controlled diabetes.
      Title: Increased expression of beta-N-acetylglucosaminidase in erythrocytes from individuals with pre-diabetes and diabetes.
    7. Data show that kinetic and X-ray crystallographic analyses of the binding modes with human/bacterial O-GlcNAcases identify some of these as competitive inhibitors.
      Title: Screening-based discovery of drug-like O-GlcNAcase inhibitor scaffolds.
    8. identification of O-GlcNAcase as a caspase-3 substrate with a novel caspase-3 cleavage site and provide insight about O-GlcNAcase regulation during apoptosis.
      Title: Characterization of beta-N-acetylglucosaminidase cleavage by caspase-3 during apoptosis.
    9. involved in processing of free oligosaccharides in the cytosol; identification of the gene encoding human cytosolic ENGase
      Title: Endo-beta-N-acetylglucosaminidase, an enzyme involved in processing of free oligosaccharides in the cytosol.
    10. endo-beta-n-acetylglucosaminidase present in the synovial fluid of rheumatoid arthritis patients, may contribute to the depletion of glycosaminoglycans from cartilage allowing the invasion of synovial cells
      Title: Synovial fluid exoglycosidases are predictors of rheumatoid arthritis and are effective in cartilage glycosaminoglycan depletion.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21865, DKFZp434P174

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in N-glycan processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein folding TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    cytosolic endo-beta-N-acetylglucosaminidase
    Names
    Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase
    Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase
    NP_001036038.1
    NP_001382981.1
    NP_001382982.1
    NP_001382983.1
    NP_001382984.1
    XP_006722081.1
    XP_006722082.1
    XP_047292504.1
    XP_047292506.1
    XP_047292507.1
    XP_054172918.1
    XP_054172919.1
    XP_054172920.1
    XP_054172921.1
    XP_054172922.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001042573.3 → NP_001036038.1  cytosolic endo-beta-N-acetylglucosaminidase isoform 4

      See identical proteins and their annotated locations for NP_001036038.1

      Status: VALIDATED

      Source sequence(s)
      AC073624, AF512564, AK025518, HY070811
      Consensus CDS
      CCDS42394.1
      UniProtKB/Swiss-Prot
      Q659F0, Q8NFI3, Q8TB86, Q9H6U4
      Related
      ENSP00000462333.1, ENST00000579016.6
      Conserved Domains (1) summary
      cd06547
      Location:126 → 444
      GH85_ENGase; Endo-beta-N-acetylglucosaminidase (ENGase) hydrolyzes the N-N'-diacetylchitobiosyl core of N-glycosylproteins. The beta-1,4-glycosyl bond located between two N-acetylglucosamine residues is hydrolyzed such that N-acetylglucosamine 1 remains with the ...

    2. NM_001396052.1 → NP_001382981.1  cytosolic endo-beta-N-acetylglucosaminidase isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC073624
      Conserved Domains (1) summary
      cd06547
      Location:126 → 444
      GH85_ENGase; Endo-beta-N-acetylglucosaminidase (ENGase) hydrolyzes the N-N'-diacetylchitobiosyl core of N-glycosylproteins. The beta-1,4-glycosyl bond located between two N-acetylglucosamine residues is hydrolyzed such that N-acetylglucosamine 1 remains with the ...

    3. NM_001396053.1 → NP_001382982.1  cytosolic endo-beta-N-acetylglucosaminidase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC073624
      Conserved Domains (1) summary
      cd06547
      Location:126 → 444
      GH85_ENGase; Endo-beta-N-acetylglucosaminidase (ENGase) hydrolyzes the N-N'-diacetylchitobiosyl core of N-glycosylproteins. The beta-1,4-glycosyl bond located between two N-acetylglucosamine residues is hydrolyzed such that N-acetylglucosamine 1 remains with the ...

    4. NM_001396054.1 → NP_001382983.1  cytosolic endo-beta-N-acetylglucosaminidase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC073624
      Conserved Domains (1) summary
      cd06547
      Location:126 → 507
      GH85_ENGase; Endo-beta-N-acetylglucosaminidase (ENGase) hydrolyzes the N-N'-diacetylchitobiosyl core of N-glycosylproteins. The beta-1,4-glycosyl bond located between two N-acetylglucosamine residues is hydrolyzed such that N-acetylglucosamine 1 remains with the ...

    5. NM_001396055.1 → NP_001382984.1  cytosolic endo-beta-N-acetylglucosaminidase isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC073624
      Conserved Domains (1) summary
      cd06547
      Location:126 → 444
      GH85_ENGase; Endo-beta-N-acetylglucosaminidase (ENGase) hydrolyzes the N-N'-diacetylchitobiosyl core of N-glycosylproteins. The beta-1,4-glycosyl bond located between two N-acetylglucosamine residues is hydrolyzed such that N-acetylglucosamine 1 remains with the ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      79074824..79088599
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436548.1 → XP_047292504.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X1

    2. XM_047436551.1 → XP_047292507.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X3

    3. XM_006722019.4 → XP_006722082.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X5

      Conserved Domains (1) summary
      cd06547
      Location:126 → 382
      GH85_ENGase; Endo-beta-N-acetylglucosaminidase (ENGase) hydrolyzes the N-N'-diacetylchitobiosyl core of N-glycosylproteins. The beta-1,4-glycosyl bond located between two N-acetylglucosamine residues is hydrolyzed such that N-acetylglucosamine 1 remains with the ...

    4. XM_047436550.1 → XP_047292506.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X2

    5. XM_006722018.4 → XP_006722081.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X4

      Conserved Domains (1) summary
      cl10447
      Location:44 → 150
      GH18_chitinase-like; The GH18 (glycosyl hydrolase, family 18) type II chitinases hydrolyze chitin, an abundant polymer of beta-1,4-linked N-acetylglucosamine (GlcNAc) which is a major component of the cell wall of fungi and the exoskeleton of arthropods. Chitinases have ...

    RNA

    1. XR_007065427.1 RNA Sequence

    2. XR_007065426.1 RNA Sequence

    3. XR_007065428.1 RNA Sequence

    4. XR_007065430.1 RNA Sequence

    5. XR_007065429.1 RNA Sequence

    6. XR_934534.2 RNA Sequence

    7. XR_429918.2 RNA Sequence

    8. XR_429919.2 RNA Sequence

    9. XR_934535.2 RNA Sequence

    10. XR_934536.2 RNA Sequence

    11. XR_007065431.1 RNA Sequence

      Related
      ENST00000300682.14

    12. XR_007065432.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      79969760..79983540
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316943.1 → XP_054172918.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X1

    2. XM_054316945.1 → XP_054172920.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X3

    3. XM_054316947.1 → XP_054172922.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X5

    4. XM_054316944.1 → XP_054172919.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X2

    5. XM_054316946.1 → XP_054172921.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X4

    RNA

    1. XR_008484919.1 RNA Sequence

    2. XR_008484918.1 RNA Sequence

    3. XR_008484920.1 RNA Sequence

    4. XR_008484922.1 RNA Sequence

    5. XR_008484921.1 RNA Sequence

    6. XR_008484924.1 RNA Sequence

    7. XR_008484923.1 RNA Sequence

    8. XR_008484925.1 RNA Sequence

    9. XR_008484927.1 RNA Sequence

    10. XR_008484926.1 RNA Sequence

    11. XR_008484928.1 RNA Sequence

    12. XR_008484929.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_022759.1: Suppressed sequence

      Description
      NM_022759.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NFI3.1 GenPept UniProtKB/Swiss-Prot:Q8NFI3

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